BookJill S. Goldman, editor.
Summary: Will I end up just like my parent? Will the children get it too? Why is this happening to me? The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.
Contents:
Part 1:The Movement Disorders
1. Overview
2. Huntington Disease
3. Parkinson Disease
4. Dystonia
5. Ataxia
Part 2:The Dementias
6. Overview
7. Alzheimer?s Disease
8. Frontotemporal Degeneration
9. Prion Diseases
Part 3:Stroke
10. Overview of Cerebrovascular Disease and Stroke Risk Factors
11. CADASIL
Part 4:The Motor Neuron Diseases
12. Overview
13. Amyotrophic Lateral Sclerosis
14. Spinal Bulbar Muscular Atrophy: Kennedy?s Disease
15. Hereditary Spastic Paraplegia
Part 5:The Neuropathies and Channelopathies
16. Charcot Marie Tooth
17. Channelopathies
18. Overview
19. The Myopathies
20. The Muscular Dystrophies
21. The Myotonic Dystrophies
Part 7:Neurocutaneous Syndromes
22. Overview
23. Neurofibromatosis
24. Tuberous sclerosis
Part 8:The Clinical Evaluation
25. The Neurological Examination and Testing
26. The Neuropsychological Evaluation.